4-Phenylbutyrate Clinical Trial Starting Recruitment
The clinical trial pilot for 4-phenylbutyrate (4PB) is starting recruitment of the first patients. This trial is being held at Weill Cornell in New York City.
The purpose of this study is to find out what effect glycerol phenylbutyrate has on STXBP1 encephalopathy. Some experiments in animals suggest that glycerol phenylbutyrate can improve function of the protein that is not working properly in STXBP1 encephalopathy. Glycerol phenylbutyrate (Ravicti) is already approved by the FDA for urea cycle disorders. This trial will study whether glycerol phenylbutyrate could be helpful in humans for STXBP1 disorders.
A total of 10 patients will be enrolled in the trial.
Inclusion Criteria for the Trial include:
Diagnosed with STXBP1 encephalopathy with confirmed laboratory report.
2 months to 17 years of age.
Patients must have had at least one seizure in the 30 days prior to enrollment.
Note: If there is high demand for the study, Weill-Cornell will prefer to enroll younger children with a high number of seizures in the past month.
For more information on the trial:
View the recorded video presentation from February 9, to learn more about the clinical trial pilot and recruitment from Dr. Zach Grinspan at Weill Cornell.
Contact Charlene Son Rigby or Jackie Steinberg
Read the Phenylbutyrate for STXBP1 Encephalopathy Pilot page and contact the study team
Read the ClinicalTrials.gov page
This clinical trial has been funded by grants from the ODC's Million Dollar Bike Ride - Lulu's Crew Team STXBP1, and Clara Inspired. In addition, the STXBP1 Foundation and Clara Inspired are excited to announce that we will be offering a Patient Assistance Program for all enrolled patients in the study to cover unreimbursed medical and travel expenses up to a set amount.